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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:optic atrophy 3
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Accession:DOID:0111433 term browser browse the term
Definition:An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. (DO)
Synonyms:exact_synonym: ADOAC;   OPA3;   OPA3, autosomal dominant;   autosomal dominant optic atrophy type 3;   optic atrophy 3 with cataract;   optic atrophy 3, autosomal dominant;   optic atrophy and cataract, autosomal dominant;   optic atrophy, cataract, and neurologic disorder
 primary_id: MESH:C537128
 alt_id: OMIM:165300
 xref: GARD:10203;   ORDO:67036

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optic atrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO ClinVar Annotator: match by term: Optic atrophy 3 | ClinVar Annotator: match by term: Optic atrophy, cataract, and neurologic disorder OMIM
ClinVar		 PMID:13703570 PMID:15342707 PMID:20301646 PMID:24136862 PMID:25159689 More... NCBI chr 6:38,974,455...39,032,780
Ensembl chr 6:39,001,467...39,032,347 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    sensory system disease 6524
      eye disease 3344
        lens disease 412
          cataract 402
            optic atrophy 3 1
Path 2
Term Annotations click to browse term
  disease 15273
    disease of anatomical entity 14893
      nervous system disease 12971
        peripheral nervous system disease 4020
          neuropathy 3830
            cranial nerve disease 678
              optic nerve disease 351
                optic atrophy 176
                  Hereditary Optic Atrophies 69
                    optic atrophy 3 1
paths to the root